| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
|---|---|---|---|---|---|---|---|---|---|---|---|
| rs1303000329 | 0.851 | 0.080 | 8 | 13110812 | missense variant | G/A;T | snv | 4.0E-06 | 4 | ||
| rs786204030 | 0.882 | 0.080 | 1 | 11791276 | stop gained | C/T | snv | 3 | |||
| rs778976254 | 1.000 | 14 | 58638335 | missense variant | C/T | snv | 6.0E-04 | 2.1E-05 | 2 | ||
| rs1563593163 | 0.925 | 0.080 | 8 | 13099960 | stop gained | G/A | snv | 2 | |||
| rs1565818580 | 0.925 | 0.080 | 10 | 32908395 | frameshift variant | -/T | delins | 2 | |||
| rs121918219 | 1.000 | 1 | 115682372 | missense variant | G/A | snv | 2.4E-05 | 4.2E-05 | 2 | ||
| rs761123443 | 1.000 | 1 | 115663998 | missense variant | G/A | snv | 2.4E-05 | 6.3E-05 | 2 | ||
| rs137955120 | 1.000 | 19 | 49807197 | missense variant | C/T | snv | 1.5E-04 | 9.1E-05 | 1 | ||
| rs12170597 | 1.000 | 22 | 46534853 | missense variant | G/A | snv | 1.2E-03 | 5.2E-03 | 1 | ||
| rs199688538 | 1.000 | 22 | 46378661 | missense variant | C/T | snv | 4.8E-04 | 4.3E-04 | 1 | ||
| rs6008777 | 1.000 | 22 | 46364140 | missense variant | G/A | snv | 5.9E-03 | 2.6E-02 | 1 | ||
| rs61741871 | 1.000 | 22 | 46364084 | missense variant | G/C | snv | 7.9E-03 | 3.2E-02 | 1 | ||
| rs786201015 | 1.000 | 22 | 46409760 | frameshift variant | -/CA | delins | 1.2E-05 | 1 | |||
| rs786201016 | 1.000 | 22 | 46396724 | frameshift variant | CA/- | delins | 1 | ||||
| rs387907204 | 1.000 | 19 | 49812733 | missense variant | G/A | snv | 1 | ||||
| rs139365610 | 1.000 | 19 | 49807348 | missense variant | C/A;T | snv | 2.4E-05; 8.1E-04 | 1 | |||
| rs1114167354 | 1.000 | 10 | 34341696 | missense variant | T/C | snv | 1 | ||||
| rs199923448 | 1.000 | 10 | 34382893 | missense variant | C/A;T | snv | 8.0E-06; 5.6E-05 | 1 | |||
| rs557643577 | 1.000 | 10 | 34450451 | splice region variant | A/G | snv | 5.8E-05 | 1 | |||
| rs757259023 | 1.000 | 10 | 34111495 | missense variant | C/T | snv | 1.3E-04 | 2.8E-05 | 1 | ||
| rs762921297 | 1.000 | 10 | 34336232 | missense variant | T/A | snv | 2.6E-04 | 7.7E-05 | 1 | ||
| rs781461462 | 1.000 | 10 | 34331221 | missense variant | G/A;C;T | snv | 1.6E-05 | 1 | |||
| rs1302482009 | 1.000 | 8 | 143810730 | missense variant | G/A | snv | 2.8E-05 | 1 | |||
| rs782428100 | 1.000 | 8 | 143792044 | missense variant | C/T | snv | 5.2E-05 | 9.1E-05 | 1 | ||
| rs3127334 | 1.000 | 6 | 166160758 | intron variant | G/A | snv | 0.77 | 1 |